OBO ID: DOID:0111474
Term Name: combined oxidative phosphorylation deficiency 1 Search Ontology:
Synonyms:
  • COXPD1
  • early fatal progressive hepatoencephalopathy
  • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • hepatoencephalopathy due to COXPD1
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32. https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1
References:
Ontology: Human Disease   (DOID:0111474)
OTHER combined oxidative phosphorylation deficiency 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GFM1 Combined oxidative phosphorylation deficiency 1 609060
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None